Incidental Mutation 'R6898:Toe1'
| ID |
538443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Toe1
|
| Ensembl Gene |
ENSMUSG00000028688 |
| Gene Name |
target of EGR1, member 1 (nuclear) |
| Synonyms |
4930584N22Rik, 4933424D16Rik |
| MMRRC Submission |
044992-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116661199-116664785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116664671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 16
(S16P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030451]
[ENSMUST00000045542]
[ENSMUST00000102699]
[ENSMUST00000106455]
[ENSMUST00000106456]
[ENSMUST00000106459]
[ENSMUST00000130359]
[ENSMUST00000145468]
|
| AlphaFold |
Q9D2E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030451
AA Change: S16P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
AA Change: S16P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:CAF1
|
39 |
171 |
3.1e-46 |
PFAM |
|
Pfam:CAF1
|
164 |
452 |
9.9e-40 |
PFAM |
|
Pfam:zf-CCCH
|
297 |
322 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045542
|
| SMART Domains |
Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
59 |
309 |
1.6e-48 |
PFAM |
|
Pfam:Pkinase_Tyr
|
59 |
309 |
1.2e-50 |
PFAM |
|
low complexity region
|
539 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102699
|
| SMART Domains |
Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687
| Domain | Start | End | E-Value | Type |
|---|
|
ENDO3c
|
107 |
259 |
1.46e-52 |
SMART |
|
FES
|
260 |
280 |
2.16e-5 |
SMART |
|
Pfam:NUDIX_4
|
353 |
463 |
2.3e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106455
AA Change: S16P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
AA Change: S16P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:CAF1
|
37 |
301 |
2.1e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106456
|
| SMART Domains |
Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
59 |
291 |
4.5e-46 |
PFAM |
|
Pfam:Pkinase
|
60 |
332 |
3.6e-46 |
PFAM |
|
low complexity region
|
510 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106459
|
| SMART Domains |
Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
59 |
238 |
6.1e-37 |
PFAM |
|
Pfam:Pkinase
|
60 |
239 |
4.3e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145468
|
| SMART Domains |
Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
1 |
184 |
2.2e-58 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd7 |
G |
T |
6: 18,868,100 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,975 (GRCm39) |
Y325F |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,970,155 (GRCm39) |
|
probably benign |
Het |
| Capns2 |
T |
C |
8: 93,628,605 (GRCm39) |
S165P |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 130,378,377 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
T |
C |
1: 93,143,304 (GRCm39) |
V1302A |
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,821,952 (GRCm39) |
R1841M |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,336,584 (GRCm39) |
L1213P |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,631,100 (GRCm39) |
I305K |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,376,193 (GRCm39) |
E1326G |
possibly damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,617 (GRCm39) |
V26E |
probably benign |
Het |
| Emc9 |
A |
G |
14: 55,822,367 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
A |
C |
15: 75,996,126 (GRCm39) |
S252A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,639,572 (GRCm39) |
T1830S |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,179,485 (GRCm39) |
M2974K |
probably damaging |
Het |
| Gdpd3 |
C |
A |
7: 126,370,201 (GRCm39) |
S250* |
probably null |
Het |
| Gnl3 |
A |
T |
14: 30,735,136 (GRCm39) |
S485R |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hsd17b3 |
T |
C |
13: 64,207,339 (GRCm39) |
Y234C |
probably benign |
Het |
| Lima1 |
T |
C |
15: 99,679,148 (GRCm39) |
H271R |
possibly damaging |
Het |
| Nfu1 |
G |
A |
6: 86,994,034 (GRCm39) |
|
probably null |
Het |
| Noto |
A |
G |
6: 85,404,942 (GRCm39) |
E97G |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,779,534 (GRCm39) |
K348E |
probably damaging |
Het |
| Or2y13 |
G |
A |
11: 49,414,536 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
C |
T |
2: 89,324,594 (GRCm39) |
G21R |
possibly damaging |
Het |
| Osmr |
C |
A |
15: 6,845,364 (GRCm39) |
V801F |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,824,234 (GRCm39) |
E554G |
probably benign |
Het |
| Pitrm1 |
T |
C |
13: 6,605,495 (GRCm39) |
L175P |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,382,053 (GRCm39) |
N214K |
probably damaging |
Het |
| Pramel7 |
T |
C |
2: 87,320,070 (GRCm39) |
T408A |
probably damaging |
Het |
| Serinc2 |
A |
T |
4: 130,149,235 (GRCm39) |
D322E |
probably benign |
Het |
| Setx |
T |
C |
2: 29,038,120 (GRCm39) |
V1535A |
probably benign |
Het |
| Sgce |
A |
T |
6: 4,689,666 (GRCm39) |
V389E |
probably damaging |
Het |
| Snx11 |
G |
A |
11: 96,659,888 (GRCm39) |
T267I |
probably benign |
Het |
| Spata6l |
T |
G |
19: 28,921,688 (GRCm39) |
Q146P |
probably benign |
Het |
| Specc1 |
G |
A |
11: 62,009,162 (GRCm39) |
S306N |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| St7 |
T |
A |
6: 17,854,945 (GRCm39) |
V294D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,880,920 (GRCm39) |
R624Q |
probably benign |
Het |
| Tcf21 |
T |
C |
10: 22,695,403 (GRCm39) |
I134V |
probably benign |
Het |
| Tgfb2 |
T |
A |
1: 186,364,697 (GRCm39) |
I266F |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,365 (GRCm39) |
I209M |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,387,034 (GRCm39) |
|
probably null |
Het |
| Vps16 |
T |
C |
2: 130,279,601 (GRCm39) |
V38A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,224,557 (GRCm39) |
D1001E |
probably damaging |
Het |
|
| Other mutations in Toe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02806:Toe1
|
APN |
4 |
116,663,527 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
F5770:Toe1
|
UTSW |
4 |
116,663,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Toe1
|
UTSW |
4 |
116,663,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Toe1
|
UTSW |
4 |
116,664,682 (GRCm39) |
missense |
probably benign |
|
|
R0639:Toe1
|
UTSW |
4 |
116,663,947 (GRCm39) |
missense |
probably benign |
|
|
R1768:Toe1
|
UTSW |
4 |
116,662,076 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1860:Toe1
|
UTSW |
4 |
116,662,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Toe1
|
UTSW |
4 |
116,662,177 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4722:Toe1
|
UTSW |
4 |
116,662,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Toe1
|
UTSW |
4 |
116,661,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5195:Toe1
|
UTSW |
4 |
116,661,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Toe1
|
UTSW |
4 |
116,664,715 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R9550:Toe1
|
UTSW |
4 |
116,661,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0722:Toe1
|
UTSW |
4 |
116,663,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Toe1
|
UTSW |
4 |
116,663,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7581:Toe1
|
UTSW |
4 |
116,663,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7582:Toe1
|
UTSW |
4 |
116,663,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7583:Toe1
|
UTSW |
4 |
116,663,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Toe1
|
UTSW |
4 |
116,663,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACAACAGTTCGGGTTTTGC -3'
(R):5'- TAGGACCGTCCAGCCAATAGAC -3'
Sequencing Primer
(F):5'- ACAACAGTTCGGGTTTTGCAGTTG -3'
(R):5'- ATAGACACTCAGCGCGCG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation